Oculoauriculovertebral spectrum with radial anomaly in child.

[holt-oram syndrome]

Oculoauriculovertebral spectrum (OAVS ) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches . It is characterized by a wide spectrum of symptoms and physical features . These abnormalities mainly involve the cheekbones , jaws , mouth , ears , eyes , or vertebrae . Other conditions with ear and /or radial involvement , such as , the Nager syndrome , Holt-Oram syndrome , Radial -renal syndrome , facioauriculoradial dysplasia , Fanconi anemia , and Vertebral , Anal atresia , Cardiac , Trachea , Esophageal , Renal , and Limb (VACTERL ) association should be considered for differential diagnosis . Here we report a child who had facial asymmetry , microsomia , microtia , congenital facial nerve palsy , conductive hearing loss , skin tags , iris coloboma , and preaxial polydactyly .

Diseases
Validation

Diseases presenting "anemia" symptom

22q11.2 deletion syndrome

alpha-thalassemia

canavan disease

child syndrome

coats disease

congenital toxoplasmosis

cowden syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dracunculiasis

erythropoietic protoporphyria

esophageal adenocarcinoma

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

omenn syndrome

scrub typhus

sneddon syndrome

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

This symptom has already been validated